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| Genetic Epilepsy v1.92 | CCT3 | Zornitza Stark Phenotypes for gene: CCT3 were changed from neurodevelopmental disorder MONDO:0700092, CCT3-related to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.91 | CCT3 | Zornitza Stark reviewed gene: CCT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MIM# 621034; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.80 | CCT3 | Ain Roesley Marked gene: CCT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.80 | CCT3 | Ain Roesley Gene: cct3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.80 | CCT3 | Ain Roesley Classified gene: CCT3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.80 | CCT3 | Ain Roesley Gene: cct3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.79 | CCT3 |
Ain Roesley gene: CCT3 was added gene: CCT3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCT3 were set to 39480921 Phenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related Penetrance for gene: CCT3 were set to Complete Review for gene: CCT3 was set to GREEN gene: CCT3 was marked as current diagnostic Added comment: 4x de novo - 3x PTCs and 1x missense overlapping phenotypes: 4/4 ID/DD 3/4 visual impairment 2/4 seizures 4/4 Hypomyelination of white matter Sources: Literature |
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